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Pepddal
Spontaneous Allele Detail
Nomenclature
Symbol: Pepddal
Name: peptidase D; dark-like
MGI ID: MGI:2683249
Gene: Pepd  Location: Chr7:34912407-35044708 bp, + strand  Genetic Position: Chr7, 20.7 cM
8 day old Pepddal/Pepddal

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  CBA/J
Mutation
description
Allele Type:    Spontaneous (Hypomorph)
Mutation:    Intragenic deletion
 
Mutation detailsThis spontaneous mutation is a 4 base pair deletion of ACTG in exon 14 that is predicted to cause a frameshift after amino acid 409 and replace the 84 carboxy terminal amino acids with 45 novel amino acids. QPCR shows a 42% decrease in expression in homozygous embryonic hearts and prolidase activity is reduced to undetectable levels in adult liver, E15.5 and adult heart, and adult red blood cells. (J:215150)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 15 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pepd Mutation:  5 strains or lines available
References
Original:  J:87005 Harris BS, et al., A new recessive coat color mutation on mouse Chromosome 7, dark-like. Mouse Mutant Resources Web Site, The Jackson Laboratory, Bar Harbor, Maine. MGI Direct Data Submission. 2003;
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/14/2019
MGI 6.14
The Jackson Laboratory